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1.
Molecules ; 26(4)2021 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-33672163

RESUMO

To date very few promising leads from natural products (NP) secondary metabolites with antiviral and immunomodulatory properties have been identified for promising/potential intervention for COVID-19. Using in-silico docking studies and genome based various molecular targets, and their in vitro anti-SARS CoV-2 activities against whole cell and/or selected protein targets, we select a few compounds of interest, which can be used as potential leads to counteract effects of uncontrolled innate immune responses, in particular those related to the cytokine storm. A critical factor for prevention and treatment of SARS-CoV-2 infection relates to factors independent of viral infection or host response. They include population-related variables such as concurrent comorbidities and genetic factors critically relevant to COVID-19 health disparities. We discuss population risk factors related to SARS-CoV-2. In addition, we focus on virulence related to glucose-6-phosphate dehydrogenase deficiency (G6PDd), the most common human enzymopathy. Review of data on the response of individuals and communities with high prevalence of G6PDd to NP, prompts us to propose the rationale for a population-specific management approach to rationalize design of therapeutic interventions of SARS-CoV-2 infection, based on use of NP. This strategy may lead to personalized approaches and improve disease-related outcomes.


Assuntos
Produtos Biológicos , /tratamento farmacológico , Antivirais/química , Antivirais/uso terapêutico , Produtos Biológicos/química , Produtos Biológicos/uso terapêutico , Deficiência de Glucosefosfato Desidrogenase/tratamento farmacológico , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos
2.
PLoS One ; 15(12): e0244782, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33382828

RESUMO

INTRODUCTION: Hemoglobin A1c (HbA1c) is recommended for diagnosing and monitoring diabetes. However, in people with sickle cell disease (SCD), sickle cell trait (SCT), α-thalassemia or glucose-6-phosphate dehydrogenase (G6PD) deficiency, HbA1c may underestimate the prevalence of diabetes. There are no data on the extent of this problem in sub-Saharan Africa despite having high prevalence of these red blood cell disorders. METHODS: Blood samples from 431 adults in northwestern Tanzania, randomly selected from the prospective cohort study, Chronic Infections, Comorbidities and Diabetes in Africa (CICADA), were analysed for SCT/SCD, α-thalassemia and G6PD deficiency and tested for associations with the combined prevalence of prediabetes and diabetes (PD/DM) by HbA1c, using the HemoCue 501 HbA1c instrument, and by 2-hour oral glucose tolerance test (OGTT). RESULTS: The mean age of the participants was 40.5 (SD11.6) years; 61% were females and 71% were HIV-infected. Among 431 participants, 110 (25.5%) had SCT and none had SCD. Heterozygous α-thalassemia (heterozygous α+ AT) was present in 186 (43%) of the participants, while 52 participants (12%) had homozygous α-thalassemia (homozygous α+ AT). Furthermore, 40 (9.3%) participants, all females, had heterozygous G6PD deficiency while 24 (5.6%) males and 4 (0.9%) females had hemizygous and homozygous G6PD deficiency, respectively. In adjusted analysis, participants with SCT were 85% less likely to be diagnosed with PD/DM by HbA1c compared to those without SCT (OR = 0.15, 95% CI: 0.08, 0.26, P < 0.001). When using OGTT, in adjusted analysis, SCT was not associated with diagnosis of PD/DM while participants with homozygous α+ AT and hemizygous G6PD deficiency were more likely to be diagnosed with PD/DM. CONCLUSIONS: HbA1c underestimates the prevalence of PD/DM among Tanzanian adults with SCT. Further research using other HbA1c instruments is needed to optimize HbA1c use among populations with high prevalence of hemoglobinopathies or G6PD deficiency.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Hemoglobina A Glicada/análise , Infecções por HIV/epidemiologia , Hemoglobinopatias/epidemiologia , Estado Pré-Diabético/epidemiologia , Adulto , Comorbidade , Estudos Transversais , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estado Pré-Diabético/sangue , Estado Pré-Diabético/diagnóstico , Prevalência , Estudos Prospectivos , Tanzânia/epidemiologia
3.
Bratisl Lek Listy ; 121(11): 786-788, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33164538

RESUMO

Our understanding of the mechanisms responsible for death of aged people from Covid-19 became one of the major concerns of these days. Glucose-6-phosphate dehydrogenase (G6PD) enhances the normal senescence and accelerates the precocious removal of chronologically young, yet biologically aged cells. Thus, its deficiency is associated with an increase in the cellular oxidative stress. Accumulating evidence showed that oxidative stress has a fundamental role in several age-related diseases. Nowadays, Covid-19 is considered a serious health problem worldwide. The host cellular environment is the key determinant of pathogen Infectivity. Most respiratory viral infections have a strong association with Glucose-6-phosphate dehydrogenase. Unfortunately, this enzyme deficiency markedly decreases with aging what is involved in increasing of the morbidity rate. The aim of this mini review was to shed more light on the role of G6PD deficiency in aged people infected with Covid-19 (Ref. 20). Keywords: GSPD, Covid-19, elderly people.


Assuntos
Infecções por Coronavirus/enzimologia , Deficiência de Glucosefosfato Desidrogenase , Pneumonia Viral/enzimologia , Idoso , Betacoronavirus , Glucosefosfato Desidrogenase , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Pandemias
4.
PLoS Negl Trop Dis ; 14(9): e0008697, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32925910

RESUMO

The proportion of Plasmodium vivax malaria among all malarias is increasing worldwide. Treatment with 8-aminoquinolines remain the only radical cure. However, 8-aminoquinolines can cause severe hemolysis in glucose-6-phosphate dehydrogenase (G6PD) deficient patients. The population of the multi-ethnic Chittagong Hill Tracts (CHT) carry the highest malaria burden within Bangladesh. As in many countries the national treatment guidelines recommend 8-aminoquinoline based radical cure without routine G6PD deficiency (G6PDd) testing to guide treatment. Aim of this study was to determine the need for routine testing within a multi-ethnic population by assessing the prevalence of G6PDd among the local population. Participants from 11 ethnicities were randomly selected and malaria status was assessed by microscopy, rapid diagnostic test (RDT) and polymerase chain reaction (PCR). G6PD status was determined by spectrophotometry and G6PD genotyping. The adjusted male median (AMM) was defined as 100% G6PD activity, participants were categorized as G6PD deficient (<30% activity), G6PD intermediate (30% to 70% activity) or G6PD normal (>70% activity). Median G6PD activities between ethnicities were compared and the association between G6PD activity and malaria status was assessed. 1002 participants were enrolled and tested for malaria. G6PD activity was measured by spectrophotometry in 999 participants and host G6PD genotyping undertaken in 323 participants. Seven participants (0.7%) had peripheral parasitaemia detected by microscopy or RDT and 42 by PCR (4.2%). Among 106 participants (32.8%) with confirmed genotype, 99 (93.4%) had the Mahidol variant. The AMM was 7.03U/gHb with 90 (9.0%) G6PD deficient participants and 133 (13.3%) with intermediate G6PD activity. Median G6PD activity differed significantly between ethnicities (p<0.001), proportions of G6PD deficient individuals ranged from 2% to 26% but did not differ between participants with and without malaria. The high G6PDd prevalence and significant variation between ethnicities suggest routine G6PDd testing to guide 8-aminoquinoline based radical in the CHT and comparable settings.


Assuntos
Grupos Étnicos/genética , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/metabolismo , Adulto , Aminoquinolinas/efeitos adversos , Aminoquinolinas/uso terapêutico , Bangladesh/epidemiologia , Testes Diagnósticos de Rotina , Feminino , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Humanos , Malária Vivax/complicações , Malária Vivax/tratamento farmacológico , Malária Vivax/epidemiologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Prevalência , Adulto Jovem
5.
Am J Trop Med Hyg ; 103(2): 760-766, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32602432

RESUMO

Primaquine is an effective anti-hypnozoite drug for Plasmodium vivax and Plasmodium ovale. However, it can trigger erythrocyte hemolysis in people with glucose 6-phosphate dehydrogenase (G6PD) deficiency. In a previous report from South Central Timor (SCT), Indonesia, we described the prevalence of Vanua Lava, Chatham, and Viangchan variants; in this study, other G6PD variants (Kaiping, Coimbra, Gaohe, Canton, and Mahidol) were subsequently analyzed. For clarity, all of these results are described together. The 381 DNA samples from the previous study during 2013-2014 were analyzed for G6PD variants by using PCR-restriction fragment length polymorphism (RFLP). The prevalence of G6PD deficiency in SCT was 6.3% (24/381 cases), including 4.2% (16/381 cases), 0.5% (2/381 cases), and 1.6% (6/381 cases) for Coimbra, Kaiping, and Vanua Lava variants, respectively. No other variants were found in this population. A significant association was found between ethnicity and the distribution of G6PD Kaiping in female subjects. A positive association was shown between G6PD activity and heterozygous females carrying Coimbra genotype, hemizygous males carrying Vanua Lava, Plasmodium falciparum infection in female subjects, and P. vivax infection in male subjects. Further molecular analysis of heterozygous females, particularly in malaria-endemic areas, is needed for mapping distribution of G6PD deficiency status in Indonesia.


Assuntos
Anemia Hemolítica/induzido quimicamente , Antimaláricos/efeitos adversos , Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Malária Falciparum/tratamento farmacológico , Malária Vivax/tratamento farmacológico , Primaquina/efeitos adversos , Adulto , Anemia Hemolítica/genética , Criança , Doenças Endêmicas , Feminino , Variação Genética , Genótipo , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Indonésia/epidemiologia , Masculino , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Fatores Sexuais
6.
Ann Biol Clin (Paris) ; 78(4): 411-416, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32576539

RESUMO

BACKGROUND AND OBJECTIVES: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy worldwide associated with hemolysis as well as neonatal jaundice, kernicterus, and even death. The goal of this study is to determinate the prevalence of G6PD deficiency in icteric neonates and to investigate its biochemical, hematological and molecular characteristics. PATIENTS AND METHODS: This cross sectional study was carried out on 154 icteric newborns admitted to the Bechir Hamza Children's Hospital in Tunisia. Laboratory evaluations included complete blood count, total serum bilirubin level (TSB), and erythrocyte G6PD activity. The G6PD activity was determined using a quantitative assay, which allowed us to divide the total population into two groups: normal and deficient population. The common G6PD Tunisian mutations (GdA - and GdMed) were determined using the amplification refractory mutation system (ARMS-PCR) method. RESULTS: The prevalence of G6PD deficiency among total population (154 icteric newborns) was 18.83%. Male neonates showed a higher incidence of G6PD deficiency of 11.03% compared to females (7.79%). There was no statistical difference between the two groups (normal and deficient), in relation to the sex, peak TSB level, age at peak TSB, hemoglobin level, and hematocrit. However, there was a significant difference in gestational age. In the deficient group, 48.28% neonates presented the peak TSB level between 3 to 7 days and 55% of the cases show a peak TSB level greater than 250 µmol/L. The G6PD G202A variant was found in 41.37% of cases. CONCLUSION: This study shows a higher prevalence of G6PD deficiency in icteric newborns of Tunisia (18.83%). This emphasizes the necessity of neonatal screening for G6PD deficiency to prevent the exposure of these newborns to known hemolytic agents and, subsequently, to prevent kernicterus or other serious complications.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Icterícia Neonatal/epidemiologia , Análise Química do Sangue , Estudos Transversais , Análise Mutacional de DNA , Feminino , Idade Gestacional , Glucosefosfato Desidrogenase/análise , Glucosefosfato Desidrogenase/sangue , Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/sangue , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/genética , Testes Hematológicos , Humanos , Recém-Nascido , Icterícia Neonatal/sangue , Icterícia Neonatal/complicações , Icterícia Neonatal/genética , Masculino , Prevalência , Tunísia/epidemiologia
7.
Eur J Haematol ; 105(3): 357-359, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32324284

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited genetic disorder caused by red cell enzymatic defects and is associated with haemolytic crisis when patients are exposed to oxidative agents (fava beans, drugs, infections). Hydroxychloroquine is suspected to trigger haemolytic crisis in G6PD-deficient patients, and off-label administration of this drug to patients infected with the novel coronavirus (SARS-CoV-2) could cause concern. We report here the first case of severe haemolytic crisis in a patient with G6PD deficiency, initiated by severe COVID-19 infection and hydroxychloroquine use. With worldwide spread of COVID-19, especially in regions with a high prevalence of G6PD deficiency, our case should alert physicians to this possible correlation.


Assuntos
Betacoronavirus , Infecções por Coronavirus/tratamento farmacológico , Deficiência de Glucosefosfato Desidrogenase/complicações , Hemólise/efeitos dos fármacos , Hidroxicloroquina/efeitos adversos , Pneumonia Viral/tratamento farmacológico , Idoso , Comorbidade , Infecções por Coronavirus/complicações , Infecções por Coronavirus/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Hidroxicloroquina/uso terapêutico , Masculino , Pandemias , Pneumonia Viral/epidemiologia
8.
PLoS One ; 15(3): e0229574, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32176714

RESUMO

Cabo Verde aims to eliminate malaria by 2020. In the country, Plasmodium falciparum had been the main parasite responsible for indigenous cases and primaquine is the first line treatment of cases and for radical cure. However, the lack of knowledge of the national prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may be one of the constraints to the malaria elimination process. Hence, this first study determines the prevalence of G6PD deficiency (G6PDd) in the archipelago. Blood samples were collected from patients who voluntarily agreed to participate in the study, in the health facilities of eight municipalities on four islands, tested with G6PD CareStart ™ deficiency Rapid Diagnosis Test (RDT). All subjects found to be G6PDd by RDT then underwent enzyme quantification by spectrophotometry. Descriptive statistics and inferences were done using SPSS 22.0 software. A total of 5.062 blood samples were collected, in majority from female patients (78.0%) and in Praia (35.6%). The RDT revealed the prevalence of G6PD deficiency in 2.5% (125/5062) of the general population, being higher in males (5.6%) than in females (1,6%). The highest G6PDd prevalence was recorded in São Filipe, Fogo, (5.4%), while in Boavista no case was detected. The G6PDd activity quantification shown a higher number of partially deficient and deficient males (respectively n = 26 and n = 22) compared to females (respectively n = 18 and n = 7), but more normal females (n = 35) than males (n = 11). According to the WHO classification, most of the G6PDd cases belongs to the class V (34.5%), while the Classes II and I were the less represented with respectively 5.8% and zero cases. This study in Cabo Verde determined the G6PDd prevalence in the population, relatively low compared to other African countries. Further studies are needed to characterize and genotyping the G6PD variants in the country.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Malária/epidemiologia , Adolescente , Adulto , Idoso , Cabo Verde/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Glucosefosfato Desidrogenase/sangue , Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/enzimologia , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Lactente , Recém-Nascido , Malária/prevenção & controle , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
9.
Pediatr Emerg Care ; 36(3): 153-157, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32108744

RESUMO

OBJECTIVES: The emergency department is considered the backbone of the medical service offered in any hospital. Yet, the data on the frequency of pediatric hematological presentation is scanty. Anemia occurs in 9% to 14% of pediatric emergency department (ED) patients. Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects more than 400 million people worldwide. Unfortunately, we do not have screening program for G6PD deficiency in Egypt. The aim of this study is to assess the burden of hemolytic crisis among Egyptian children visiting ED. METHODS: This is a prospective cross-sectional study among children presenting with acute hemolytic crisis in the ED of New Children Hospital, Cairo University from March to June 2016. Cases underwent full history taking, clinical examination, and laboratory tests based on clinical judgment of the resident. We categorized the presenting hemolytic anemias into 3 groups: G6PD deficiency, acute hemolysis in previously diagnosed patients with chronic hemolytic anemia, and acute undiagnosed hemolytic anemia. RESULTS: Our study included 143 patients, 109 males (76.22%) and 34 females (23.76%), with a mean age 36 months (range, 3-188 months), who presented with hemolytic anemia in the ED. Seventy-six cases (53.1%) were diagnosed as G6PD deficiency, 36 (25.2%) were diagnosed as chronic hemolytic anemia, and 31 (21.7%) were diagnosed as undiagnosed acute hemolytic anemia. CONCLUSIONS: Hemolytic anemia is very common presentation in ED. G6PD deficiency is the most common cause, representing 53.1% of the hemolytic anemia.


Assuntos
Anemia Hemolítica/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Egito/epidemiologia , Favismo/epidemiologia , Feminino , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Hemólise , Humanos , Lactente , Masculino , Estudos Prospectivos
10.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. Impr.) ; 46(1): 68-74, ene.-feb. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-194410

RESUMO

El déficit de glucosa-6-fosfato-deshidrogenasa (G6PD) es la enzimopatía más prevalente en población general, pero la mayoría de los pacientes son asintomáticos (las crisis son desencadenadas por ciertos fármacos o alimentos). La repercusión clínica es mayor en pacientes procedentes de áreas endémicas de malaria (la medicación antipalúdica puede desencadenar una crisis). El aumento de flujos migratorios hace que las personas afectadas por el déficit en nuestra consulta estén en aumento, lo que hace interesante una revisión bibliográfica de esta entidad. Algunos autores han comunicado que los pacientes con déficit de G6PD presentan un aumento de enfermedades cardiovasculares, lo que lleva a plantear un control estricto de factores de riesgo cardiovasculares. Por otro lado, estos pacientes presentan una disminución en la prevalencia de cáncer colorrectal. Además, las donaciones de médula ósea y de derivados hematopoyéticos podrían hacerse con seguridad


Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most prevalent abnormal enzyme condition in the general population, but most patients are asymptomatic (crises are triggered by certain drugs or foods). The clinical consequences are greater in patients coming from endemic areas of malaria (antimalarial medication can trigger a crisis). The increase in migratory flows has led to an increase in the number of people affected by the deficiency in our practice, which makes it interesting to carry out a literature review of this condition. Some authors have communicated that patients with G6PD deficiency have an increase in prevalence of cardiovascular diseases, which requires the strict control of cardiovascular risk factors. However, these patients show a decrease in colorectal cancer prevalence. In addition, donations of bone marrow and haematopoietic derivatives could be performed safely


Assuntos
Humanos , Antimaláricos/efeitos adversos , Doenças Cardiovasculares/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Antimaláricos/administração & dosagem , Deficiência de Glucosefosfato Desidrogenase/etiologia , Deficiência de Glucosefosfato Desidrogenase/terapia , Malária/tratamento farmacológico , Malária/epidemiologia , Fatores de Risco
11.
J Perinatol ; 40(2): 194-202, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31907395

RESUMO

OBJECTIVE: To determine the incidence and etiology of extreme neonatal hyperbilirubinemia, defined as total serum bilirubin (TSB) ≥450 µmol/L, and kernicterus spectrum disorder (KSD) in Denmark between 2000 and 2015. STUDY DESIGN: We identified all infants born between 01.01.2000 and 31.12.2015 with TSB ≥450 µmol/L, ratio of conjugated to TSB <0.30, gestational age ≥35 weeks, and postnatal age ≤4 weeks, using Danish hospitals' laboratory databases. RESULT: We included 408 infants. The incidence of extreme neonatal hyperbilirubinemia among infants with gestational age ≥35 weeks was 42/100,000 during the study period with a seemingly decreasing incidence between 2005 and 2015. Twelve of the 408 infants developed KSD, (incidence 1.2/100,000) Blood type ABO isohemolytic disease was the most common explanatory etiology. CONCLUSIONS: Our study stresses the importance of a systematic approach to neonatal jaundice and ongoing surveillance of extreme neonatal hyperbilirubinemia and KSD.


Assuntos
Hiperbilirrubinemia Neonatal/epidemiologia , Kernicterus/epidemiologia , Bilirrubina/sangue , Estudos de Coortes , Dinamarca/epidemiologia , Transfusão Total , Feminino , Idade Gestacional , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Hiperbilirrubinemia Neonatal/complicações , Hiperbilirrubinemia Neonatal/terapia , Incidência , Recém-Nascido , Icterícia Neonatal , Kernicterus/diagnóstico , Kernicterus/etiologia , Imagem por Ressonância Magnética , Masculino , Fototerapia
12.
J Trop Pediatr ; 66(3): 284-289, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-31821472

RESUMO

PURPOSE: Newborn screening is the need of the hour in a developing country like India as there is paucity of data from studies conducted in government hospitals with large sample size. The purpose of the study is to estimate incidence rate and recall rates for five conditions screened in the neonatal period namely congenital hypothyroidism, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, galactosemia and phenyl ketonuria (PKU). METHODS: The study was conducted at VaniVilas Hospital attached to Bangalore Medical College and Research Institute. A retrospective analysis of the results of newborn screening programme during a 3-year period between January 2016 and December 2018 was done. There were 47 623 livebirths during this period out of which 41 027 babies were screened (coverage-86% of total livebirths). Heelprick samples after 48 h of life and prior to discharge were analysed by quantitative assessment. Neonates having positive screening results were recalled by telephonic call for repeat screening and confirmatory tests. RESULTS: G6PD deficiency was the most common disorder with an incidence of 1:414, followed by congenital hypothyroidism and Congenital Adrenal Hyperplasia with an incidence of 1:2735 and 1:4102, respectively. Galactosemia and PKU were found to be rare in our population. The overall average recall rate was 0.6% which meant that 24 normal newborns were recalled for testing for one confirmed case. The recall rate was relatively higher for galactosemia and G6PD deficiency which was at 0.25% each compared to the other conditions where it was below 0.05%. CONCLUSION: The results of the study emphasize the need for universal newborn screening especially in all government hospitals with large birth cohorts.


Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Hipotireoidismo Congênito/diagnóstico , Galactosemias/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Cetose/diagnóstico , Triagem Neonatal/métodos , Hiperplasia Suprarrenal Congênita/epidemiologia , Hipotireoidismo Congênito/epidemiologia , Feminino , Galactosemias/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Incidência , Índia/epidemiologia , Recém-Nascido , Cetose/epidemiologia , Masculino , Avaliação de Programas e Projetos de Saúde
13.
Sports Health ; 12(2): 149-153, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31603370

RESUMO

CONTEXT: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is likely the most prevalent enzyme deficiency on the planet, with an estimated 4.9% of people, or approximately 330 million individuals, across the globe affected by the disease. In the United States, 4% to 7% of the population is likely affected, but each year our nation's major sport leagues become more international. It is important for medical professionals who treat athletes to understand how this genetic condition can affect the athletes we are working with, especially because exercise in itself results in oxidative stress. EVIDENCE ACQUISITION: PubMed was searched for relevant articles published from 1980 to 2018. The search terms G6PD, athletes, military, and sports were used. STUDY DESIGN: Clinical review. LEVEL OF EVIDENCE: Level 4. RESULTS: Though some case reports suggest a potential impact on athlete safety and performance, controlled studies demonstrate limited impact of exercise on oxidative stress in G6PD-deficient individuals. The care of athletes with G6PD deficiency does not drastically differ from the care of athletes without this condition. Most of the medications and supplements that are regularly given to athletes should not negatively affect their health. CONCLUSION: Although the care of athletes with G6PD deficiency is for the most part no different from the care of other athletes, there are certain situations (visiting areas where malaria is endemic) and medications for which it is important to recognize how your management should change. G6PD deficiency is not regularly screened for but could be considered if an athlete has known sickle cell disease or when traveling to areas where malaria is prevalent. Expanding our knowledge of G6PD deficiency will allow for better care of athletes.


Assuntos
Exercício Físico/fisiologia , Deficiência de Glucosefosfato Desidrogenase/tratamento farmacológico , Deficiência de Glucosefosfato Desidrogenase/fisiopatologia , Esportes/fisiologia , Glucosefosfato Desidrogenase/fisiologia , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Estresse Oxidativo
14.
Acta Trop ; 202: 105252, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31678235

RESUMO

G6PD deficiency results from numerous mutations in the G6PD gene and can cause alterations in enzyme function up to varying degrees. P. vivax malaria infections require G6PD deficiency screening because of the potential risk of haemolysis by the gametocytocidal drug (primaquine) during the radical treatment. The present study investigated the incidence of G6PD deficiency from northeast India and further, molecular characterization was performed. During 2014-16, a total of 1,015 patients from four north-eastern states of India (Tripura, Mizoram, Meghalaya & Arunachal Pradesh), were screened for G6PD deficiency, using Beutler's fluorescence spot test (FST) and confirmed with SPAN G6PD kit. The deficient individuals (55/1015, 5.4%) were further characterized by PCR-RFLP and DNA sequencing except one case of lost to follow up. As observed by FST, the frequency of G6PD deficient males (42/538, 7.8%) were found to be higher than females (13/477, 2.73%), (p < 0.0001). Two non-synonymous mutations; G6PD-D (Mahidol)487A (48/54, 88.9%; 36 hemizygous males, 8 homozygous and 4 heterozygous females) and G6PD-D (Acores)595T (2/54, 3.7%) were identified. Remaining (4/54, 7.4%) individuals could not be characterized. Molecular modeling and dynamic simulations were performed for the G6PD wild-type (G6PD-WT) enzyme and its variants. The in-silico results demonstrated alterations in the secondary structures & crucial loss of ligand-protein interactions, which might result in reduced enzyme function, leading to enzyme deficiency. To the best of our knowledge, this is the first report to document G6PD-Mahidol and G6PD-Acores variants from malaria-endemic regions of northeast India, and provided molecular insights on the varied genetic makeup of the studied population.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Adulto , Simulação por Computador , Análise Mutacional de DNA , Feminino , Genótipo , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Heterozigoto , Humanos , Índia/epidemiologia , Masculino , Mutação , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição
15.
Acta Haematol ; 143(3): 196-203, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31550707

RESUMO

INTRODUCTION: Timely diagnosis and effective treatment, based on epidemiologic data, consistently reduce the clinical, social and economic burden of inherited erythrocyte disorders. OBJECTIVE: This article provides an overview on current worldwide epidemiology of the most frequent inherited erythrocyte disorders. METHODS: Information was obtained from Global Health Data Exchange (GHDx) database. RESULTS: Glucose-6-phosphate dehydrogenase (G6PD) deficiency has the largest worldwide incidence and prevalence. Sickle cell disorders (SCD) cause the highest cause-specific disability-adjusted life years (DALYs). Incidence and prevalence of SCD have recently increased, whilst DALYs and mortality remained stable. All epidemiologic measures of thalassemias have recently declined, whilst those of G6PD deficiency remained stable or increased. Africa has the highest incidence of G6PD deficiency and SCD, whilst thalassemias are more frequent in Western Pacific. The incidence of all inherited erythrocyte disorders is increasing in Africa and Eastern Mediterranean, whilst is decreasing in South-East Asia, Western Pacific and Europe. Thalassemias and SCD display a peak of prevalence and mortality between 0 and 15 years, whilst mortality for G6PD deficiencies and other hemoglobinopathies peaks between 45 and 75 years and >80 years, respectively. Men have higher burden of G6PD deficiencies, whilst sex distribution of SCD and thalassemias is similar. CONCLUSIONS: The worldwide epidemiologic burden of inherited erythrocyte disorders remains particularly high.


Assuntos
Hemoglobinopatias/epidemiologia , Distribuição por Idade , Anemia Falciforme/epidemiologia , Bases de Dados Factuais , Eritrócitos Anormais , Geografia Médica , Saúde Global , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Hemoglobinopatias/genética , Humanos , Incidência , Classificação Internacional de Doenças , Prevalência , Anos de Vida Ajustados por Qualidade de Vida , Distribuição por Sexo , Talassemia/epidemiologia
16.
Semergen ; 46(1): 68-74, 2020.
Artigo em Espanhol | MEDLINE | ID: mdl-31337588

RESUMO

Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most prevalent abnormal enzyme condition in the general population, but most patients are asymptomatic (crises are triggered by certain drugs or foods). The clinical consequences are greater in patients coming from endemic areas of malaria (antimalarial medication can trigger a crisis). The increase in migratory flows has led to an increase in the number of people affected by the deficiency in our practice, which makes it interesting to carry out a literature review of this condition. Some authors have communicated that patients with G6PD deficiency have an increase in prevalence of cardiovascular diseases, which requires the strict control of cardiovascular risk factors. However, these patients show a decrease in colorectal cancer prevalence. In addition, donations of bone marrow and haematopoietic derivatives could be performed safely.


Assuntos
Antimaláricos/efeitos adversos , Doenças Cardiovasculares/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Antimaláricos/administração & dosagem , Deficiência de Glucosefosfato Desidrogenase/etiologia , Deficiência de Glucosefosfato Desidrogenase/terapia , Humanos , Malária/tratamento farmacológico , Malária/epidemiologia , Fatores de Risco
17.
Ann Hum Biol ; 47(1): 55-58, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31833391

RESUMO

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human erythroenzymopathy affecting more than 400 million people worldwide. G6PD deficiency was reported in India more than 50 years ago and the prevalence rate varies from 5.7% to 27.9% in different caste and tribal groups.Aim: To study the prevalence of, and the mutations causing, G6PD deficiency among the Siddis of Karnataka.Subjects and methods: A total of 755 individuals were screened using the DPIP dye decolorisation method and the deficiency was further confirmed by quantitative assay. Molecular characterisation was performed by PCR-RFLP method and DNA sequencing. Biochemical characterisation was performed as per WHO criteria.Results: Of the 755 individuals, 71 individuals (9.4%) were found to be G6PD deficient with an enzyme activity ranging from 0.02 to 3.83 IU/gm Hb. Mutational analysis could be performed on 49 G6PD deficient individuals and 45 (91.8%) of them showed the presence of the G6PD A- variant while the remaining 4 (8.2%) had the G6PD Kerala-Kalyan mutation. Microsatellite analysis in G6PD A- individuals showed the presence of 166/195 bp, AC/CTT alleles.Conclusions: G6PD deficiencies among the Siddis are predominantly due to G6PD A- mutation. Furthermore, biochemical parameters and the microsatellite repeat markers in the Siddi A- chromosome confirmed they are African descendants with Indian admixture.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Glucosefosfato Desidrogenase/genética , Adolescente , Adulto , Idoso , Criança , Feminino , Deficiência de Glucosefosfato Desidrogenase/etnologia , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Mutação , Prevalência , Adulto Jovem
18.
MSMR ; 26(12): 14-17, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860324

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited genetic disorder most commonly associated with hemolytic anemia. Among those with G6PD deficiency, hemolytic anemia may be triggered by bacterial or viral infections and by certain foods and drugs, including the 8-aminoquinoline (8-AQ) class of antimalarials. Because 8-AQ drugs remain the only drugs approved by the U.S. Food and Drug Administration for malaria relapse prevention, the Department of Defense (DoD) requires testing of all service members' G6PD status. To estimate prevalence of G6PD deficiency among DoD service members, Composite Health Care System-generated, Health Level 7-formatted laboratory records for all service members (n=2,311,223) dated between May 2004 and September 2018 were queried for G6PD testing. Corresponding demographic data were obtained from the Defense Enrollment Eligibility Reporting System. Overall prevalence of G6PD deficiency among this cohort was low, at 2.2%. Demographic trends mirrored U.S. statistics; the cohort prevalence among males (2.3%) was higher than among females (1.5%), and the prevalence among non-Hispanic blacks (9.5%) was higher than among those in any other race/ethnicity group.


Assuntos
Antimaláricos/efeitos adversos , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Militares/estatística & dados numéricos , Doenças Profissionais/epidemiologia , Adulto , Feminino , Deficiência de Glucosefosfato Desidrogenase/induzido quimicamente , Deficiência de Glucosefosfato Desidrogenase/parasitologia , Humanos , Malária/prevenção & controle , Masculino , Pessoa de Meia-Idade , Doenças Profissionais/induzido quimicamente , Doenças Profissionais/parasitologia , Prevalência , Estados Unidos/epidemiologia , Adulto Jovem
19.
BMC Res Notes ; 12(1): 734, 2019 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-31703724

RESUMO

OBJECTIVES: The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anemia (SCA), and ß-thalassemia (ß-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 phosphate dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. RESULTS: The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic method using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. ß-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of ß-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3%) and ß-TT (4.8%). The study highlighted sickle cell disorder (SCD) and ß-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Hemoglobinopatias/epidemiologia , Eletroforese , Humanos , Concentração de Íons de Hidrogênio , Nepal/epidemiologia , Fatores de Risco
20.
JAAPA ; 32(11): 21-26, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31609781

RESUMO

Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is less known in Western countries than in the Middle East and Africa, global migration and immigration are bringing ethnic groups with the highest incidence of this inherited genetic disorder into the US healthcare system. The G6PD enzyme is critical to protecting erythrocytes against oxidative stress, and deficiency may lead to hemolysis in the presence of certain environmental factors such as infection and some medications and foods. Neonatal jaundice, favism, and hemolysis are associated with exposure to increased oxidative stressors in patients with G6PD deficiency. By recognizing the potential for G6PD deficiency, clinicians can screen for the disorder and teach affected patients how to avoid triggers that result in harmful clinical manifestations.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Glucosefosfato Desidrogenase , Deficiência de Glucosefosfato Desidrogenase/fisiopatologia , Humanos , Estresse Oxidativo , Estados Unidos/epidemiologia
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